Jul 26, 2021
The participant was born with multiple congenital anomalies (borderline microcephaly, sparse hair, bent fingers, 3-4 finger syndactyly, talipes equinovarus, abnormal ears, hypoplastic fingernails, bilateral foot ectrodactyly, hypoplastic nipples, hypoplastic labia, proximally positioned anus). On ultrasound, she was found to have underdeveloped kidneys (bilateral renal dysplasia). Upon further evaluation, the participant was diagnosed with a narrowed nasal passageway (choanal stenosis) and multiple eye anomalies (microphthalmia, multiple colobomas, malformed globes).
At the time of her initial genetics evaluation, she was doing well but developed feeding difficulties and constipation soon after. She underwent an EEG for a concern of seizures, which was normal. She also underwent testing for an irregular heartbeat (heart arrhythmia), which resolved.
The participant has severe gastroesophageal reflux disease (GERD) and is dependent on a G-tube for feeding. She is in intensive feeding therapy and can eat and drink some orally, but continues to have a swallowing disorder.
She is a very active little girl and continues to make strides despite her long list of diagnoses.
Clinicians and researchers are investigating the following de novo genetic changes to see if they are causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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